ID   LUMCi039-A
AC   CVCL_A7QT
SY   LQT1-1781G/A hiPSC; iPSC LQT1R594Q; LUMC0021iKCNQ-30
DR   BioSamples; SAMEA8307098
DR   hPSCreg; LUMCi039-A
DR   Wikidata; Q107115879
RX   PubMed=27470144;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=27470144).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 27-11-25; Version: 8
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RX   PubMed=27470144; DOI=10.15252/emmm.201606260; PMCID=PMC5009811;
RA   Sala, Luca
RA   Yu, Zhi-Yi
RA   Ward-van Oostwaard, Dorien
RA   van Veldhoven, Jacobus P.D.
RA   Moretti, Alessandra
RA   Laugwitz, Karl-Ludwig
RA   Mummery, Christine Lindsay
RA   IJzerman, Adriaan Pieter
RA   Bellin, Milena
RT   "A new hERG allosteric modulator rescues genetic and drug-induced
RT   long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of
RT   patient induced pluripotent stem cells.";
RL   EMBO Mol. Med. 8:1065-1081(2016).
//